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Identification and Characterization of DM1 Patients by a New Diagnostic Certified Assay: Neuromuscul...

Identification and Characterization of DM1 Patients by a New Diagnostic Certified Assay: Neuromuscul...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3665172

Identification and Characterization of DM1 Patients by a New Diagnostic Certified Assay: Neuromuscular and Cardiac Assessments

About this item

Full title

Identification and Characterization of DM1 Patients by a New Diagnostic Certified Assay: Neuromuscular and Cardiac Assessments

Publisher

United States: Hindawi Publishing Corporation

Journal title

BioMed research international, 2013-01, Vol.2013, p.958510-6

Language

English

Formats

Publication information

Publisher

United States: Hindawi Publishing Corporation

More information

Scope and Contents

Contents

The expansion of the specific trinucleotide sequence, [CTG], is the molecular pathological mechanism responsible for the clinical manifestations of DM1. Many studies have described different molecular genetic techniques to detect DM1, but as yet there is no data on the analytical performances of techniques used so far in this disease. We therefore...

Alternative Titles

Full title

Identification and Characterization of DM1 Patients by a New Diagnostic Certified Assay: Neuromuscular and Cardiac Assessments

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3665172

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3665172

Other Identifiers

ISSN

2314-6133

E-ISSN

2314-6141

DOI

10.1155/2013/958510

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